Mobius II syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Aplasia of the pectoralis major muscle
|
disease |
|
Anatomical Abnormality
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia involving the metacarpal bones
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the sense of smell
|
phenotype |
|
Finding
|
14
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the ulna
|
phenotype |
|
Anatomical Abnormality
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital absence of breast
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital absence of hand
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Absence of hand
|
phenotype |
|
Finding
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
19
|
7
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Aplasia/Hypoplasia of the tongue
|
phenotype |
|
Finding
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the thumb
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
22
|
1
|
0.100 |
None |
|
0 |
|
|
|
Mobius Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
28
|
2
|
0.330 |
None |
1.000 |
3 |
|
2015 |
2019 |
Aplasia/Hypoplasia of the radius
|
phenotype |
|
Finding
|
45
|
|
0.100 |
None |
|
0 |
|
|
|
Blepharitis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
55
|
3
|
0.100 |
None |
|
0 |
|
|
|
Cafe au lait spots, multiple
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
61
|
13
|
0.100 |
None |
|
0 |
|
|
|
Mask-like facies
|
phenotype |
Nervous System Diseases
|
Finding
|
64
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the voice
|
disease |
|
Finding
|
64
|
|
0.100 |
None |
|
0 |
|
|
|
Reduced number of teeth
|
phenotype |
|
Finding
|
67
|
11
|
0.100 |
None |
|
0 |
|
|
|
Glucose measurement
|
phenotype |
|
Laboratory Procedure
|
89
|
111
|
0.100 |
None |
1.000 |
1 |
1
|
2011 |
2011 |
elevated blood glucose level
|
phenotype |
|
Finding
|
89
|
111
|
0.100 |
None |
1.000 |
1 |
1
|
2011 |
2011 |
Open mouth (finding)
|
phenotype |
|
Finding
|
96
|
11
|
0.100 |
None |
|
0 |
|
|
|
Eversion of lower lip
|
phenotype |
|
Finding
|
105
|
3
|
0.100 |
None |
|
0 |
|
|
|
Carcinomatosis of peritoneal cavity
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
107
|
3
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Microdontia (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
109
|
6
|
0.100 |
None |
|
0 |
|
|
|
Corneal Opacity
|
phenotype |
Eye Diseases
|
Finding
|
113
|
5
|
0.100 |
None |
|
0 |
|
|
|